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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 22-37059395-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37059395&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37059395,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000403888.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "NM_001282684.2",
"protein_id": "NP_001269613.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 314,
"cds_start": 569,
"cds_end": null,
"cds_length": 945,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": "ENST00000403888.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "ENST00000403888.8",
"protein_id": "ENSP00000385096.4",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 314,
"cds_start": 569,
"cds_end": null,
"cds_length": 945,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": "NM_001282684.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "ENST00000402077.8",
"protein_id": "ENSP00000384391.4",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 290,
"cds_start": 569,
"cds_end": null,
"cds_length": 873,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "NM_024681.4",
"protein_id": "NP_078957.3",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 290,
"cds_start": 569,
"cds_end": null,
"cds_length": 873,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "NM_001282685.2",
"protein_id": "NP_001269614.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 218,
"cds_start": 569,
"cds_end": null,
"cds_length": 657,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "NM_001282686.2",
"protein_id": "NP_001269615.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 213,
"cds_start": 569,
"cds_end": null,
"cds_length": 642,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "ENST00000610767.5",
"protein_id": "ENSP00000480699.2",
"transcript_support_level": 3,
"aa_start": 190,
"aa_end": null,
"aa_length": 213,
"cds_start": 569,
"cds_end": null,
"cds_length": 642,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.452G>C",
"hgvs_p": "p.Ser151Thr",
"transcript": "ENST00000456470.1",
"protein_id": "ENSP00000409638.1",
"transcript_support_level": 3,
"aa_start": 151,
"aa_end": null,
"aa_length": 179,
"cds_start": 452,
"cds_end": null,
"cds_length": 540,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "XM_011530374.3",
"protein_id": "XP_011528676.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 363,
"cds_start": 569,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "XM_047441491.1",
"protein_id": "XP_047297447.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 357,
"cds_start": 569,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "XM_005261742.4",
"protein_id": "XP_005261799.3",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 345,
"cds_start": 569,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "XM_047441492.1",
"protein_id": "XP_047297448.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 345,
"cds_start": 569,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "XM_005261743.4",
"protein_id": "XP_005261800.3",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 321,
"cds_start": 569,
"cds_end": null,
"cds_length": 966,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "XM_005261744.3",
"protein_id": "XP_005261801.2",
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"cds_start": 569,
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"cdna_start": 588,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "XM_047441493.1",
"protein_id": "XP_047297449.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 306,
"cds_start": 569,
"cds_end": null,
"cds_length": 921,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "XM_047441494.1",
"protein_id": "XP_047297450.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
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"cds_start": 569,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr",
"transcript": "XM_047441495.1",
"protein_id": "XP_047297451.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 218,
"cds_start": 569,
"cds_end": null,
"cds_length": 657,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "n.179G>C",
"hgvs_p": null,
"transcript": "ENST00000462640.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 808,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "n.415G>C",
"hgvs_p": null,
"transcript": "ENST00000478231.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "n.425G>C",
"hgvs_p": null,
"transcript": "ENST00000483389.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "n.588G>C",
"hgvs_p": null,
"transcript": "XR_937917.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"hgvs_c": "n.*194G>C",
"hgvs_p": null,
"transcript": "ENST00000421900.5",
"protein_id": "ENSP00000409116.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCTD17",
"gene_hgnc_id": 25705,
"dbsnp": "rs144682183",
"frequency_reference_population": 0.00004527227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000486229,
"gnomad_genomes_af": 0.0000131365,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08334875106811523,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.0671,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.816,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000403888.8",
"gene_symbol": "KCTD17",
"hgnc_id": 25705,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Ser190Thr"
}
],
"clinvar_disease": "Myoclonic dystonia 26",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Myoclonic dystonia 26",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}